U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

DNAAF8 dynein axonemal assembly factor 8 [ Homo sapiens (human) ]

Gene ID: 146562, updated on 3-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
DNAAF8provided by HGNC
Official Full Name
dynein axonemal assembly factor 8provided by HGNC
Primary source
HGNC:HGNC:25081
See related
Ensembl:ENSG00000166246 AllianceGenome:HGNC:25081
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Daap1; C16orf71
Summary
Predicted to enable dynein complex binding activity. Predicted to be involved in outer dynein arm assembly. Located in dynein axonemal particle. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 29.4) See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See DNAAF8 in Genome Data Viewer
Location:
16p13.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (4734537..4749396)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (4763994..4778854)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (4784538..4799397)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene hESC enhancers GRCh37_chr16:4743475-4743982 and GRCh37_chr16:4743983-4744490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4745093-4745593 Neighboring gene nudix hydrolase 16 like 1 Neighboring gene ankyrin repeat and sterile alpha motif domain containing 3 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr16:4763641-4764282 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr16:4764283-4764922 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr16:4768049-4768651 and GRCh37_chr16:4768652-4769253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7163 Neighboring gene zinc finger protein 500 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10344 Neighboring gene septin 12 Neighboring gene small integral membrane protein 22 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:4852142-4852642 Neighboring gene rogdi atypical leucine zipper

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Functional partitioning of a liquid-like organelle during assembly of axonemal dyneins. Lee C, et al. Elife, 2020 Dec 2. PMID 33263282, Free PMC Article
  2. Dynamic Protein Interactions of the Polycomb Repressive Complex 2 during Differentiation of Pluripotent Cells. Oliviero G, et al. Mol Cell Proteomics, 2016 Nov. PMID 27634302, Free PMC Article
  3. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article
  4. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ43261, DKFZp686H2240

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables dynein complex binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in outer dynein arm assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in dynein axonemal particle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in dynein axonemal particle IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
dynein axonemal assembly factor 8
Names
dynein axonemal-associated protein 1
uncharacterized protein C16orf71

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_139170.3 → NP_631909.2  dynein axonemal assembly factor 8

    See identical proteins and their annotated locations for NP_631909.2

    Status: VALIDATED

    Source sequence(s)
    BC035024, BI458862, BX648126
    Consensus CDS
    CCDS10521.1
    UniProtKB/Swiss-Prot
    Q8IYS4, Q8NCV0
    UniProtKB/TrEMBL
    K7EPW6
    Related
    ENSP00000299320.4, ENST00000299320.10
    Conserved Domains (1) summary
    pfam15773
    Location:21 → 520
    DUF4701; Domain of unknown function (DUF4701)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    4734537..4749396
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005255144.4 → XP_005255201.1  dynein axonemal assembly factor 8 isoform X2

    Conserved Domains (1) summary
    pfam15773
    Location:1 → 382
    DUF4701; Domain of unknown function (DUF4701)

  2. XM_017022975.2 → XP_016878464.1  dynein axonemal assembly factor 8 isoform X1

    UniProtKB/TrEMBL
    K7EPW6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    4763994..4778854
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379690.1 → XP_054235665.1  dynein axonemal assembly factor 8 isoform X2

  2. XM_054379689.1 → XP_054235664.1  dynein axonemal assembly factor 8 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IYS4.3 GenPept UniProtKB/Swiss-Prot:Q8IYS4

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous